Expanded conventional first trimester screening

OBJECTIVE: The study aims to determine the performance of a five (5) serum marker plus ultrasound screening protocol for T21, T18 and T13. METHOD: Specimens from 331 unaffected, 34 T21, 19 T18 and 8 T13 cases were analyzed for free Beta human chorionic gonadotropin, pregnancy‐associated plasma protein A, alpha‐fetoprotein, placental growth factor and dimeric inhibin A. Gaussian distributions of multiples of the median values were used to estimate modeled false positive and detection rates (DR). RESULTS: For T21, at a 1/300 risk cut‐off, DR of screening with all five serum markers along with nuchal translucency and nasal bone was 98% at a 1.2% false positive rate (FPR). Using a 1/1000 cut‐off, the DR was 99% with a 2.6% FPR. For T18/13 with free Beta human chorionic gonadotropin, pregnancy‐associated plasma protein A, placental growth factor and nuchal translucency at a 1/150 cut‐off, DR was 95% at a 0.5% FPR while at a 1/500 risk cut‐off, DR was 97% at a 1.2% FPR. CONCLUSION: An expanded conventional screening test can achieve very high DRs with low FPRs. Such screening fits well with proposed contingency protocols utilizing cell‐free DNA as a secondary or reflex but also provides the advantages of identification of pregnancies at risk for other adverse outcomes such as early‐onset preeclampsia. © 2017 Eurofins NTD, LLC. Prenatal Diagnosis published by John Wiley & Sons, Ltd.